过去一年中添加的文章,按日期排序

Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations, and Therapeutic Advances in Fabry Disease and Marfan Syndrome

G Biswas, NR Madhu, B Sarkar, S Paul, H Erfani… - Rare Genetic Disorders …, 2024 - Springer
1 天前 - review aims to explore these two distinct but equally captivating rare genetic disorders,
delving into their genetic … is an inherited autosomal dominant connective tissue disorder

[HTML][HTML] Immunogenetics of Systemic Sclerosis

O Gumkowska-Sroka, K Kotyla, P Kotyla - Genes, 2024 - mdpi.com
3 天前 - … Systemic sclerosis (SSc) is a rare autoimmune connective tissue disorder
disease susceptibility. This paper presents a comprehensive review of the most relevant genetic

… and value of sotatercept for pulmonary arterial hypertension: A summary from the Institute for Clinical and Economic Review's Midwest Comparative Effectiveness …

D Nikitin, GA Lin, MD Whittington, E Nhan… - Journal of Managed …, 2024 - jmcp.org
5 天前 - … be inherited or related to other medical conditions, including connective tissue
diseases, … demographics, including connective tissue disease– associated PAH, congenital heart …

Systemic sclerosis and Scleroderma-like syndromes

K Romanowska-Próchnicka, A Lesiak, A Reich… - Frontiers in … - frontiersin.org
5 天前 - … Systemic sclerosis is a systemic connective tissue disease whose main … syndromes
caused by deposition disorders. In the following paper, we have reviewed the literature on …

Fibrotic Cystic Lung Disease With Pulmonary Interstitial Cholesterol Granulomas (PICG) in Marfan Syndrome Associated Interstitial Lung Disease: A Case Report

J Mcintosh, A Abu Sayf, K Thavarajah… - … LUNG DISEASE, 2024 - atsjournals.org
7 天前 - … dominant connective tissue disorder caused by mutation of … a history of MFS and a
positive genetic test for FBN1 gene … An autoimmune review of systems and a comprehensive …

When Tissue Connection Fails Unwanted Space Prevails-Recurrent Pneumothorax Due to Vascular Ehlers-Danlos Syndrome

S Chow, A Zander - … PULMONARY AND PLEURAL DISEASE, 2024 - atsjournals.org
7 天前 - … spectrum of relatively rare genetic disorders of connective tissue caused by alterations
review of surgical specimens noted chronic hemorrhage without any endometrial tissue. …

[HTML][HTML] A Literature Review of Current Treatments for the Hypermobility Subtype of Ehlers-Danlos Syndrome

J Gericke, M Zsolway, C Reyes, P Patel, S Ahmed… - 2024 - rdw.rowan.edu
7 天前 - … is an inheritable connective tissue disorder which results from a genetic mutation
that alters … Methods: A review of literature was performed to compare each treatment based on …

[HTML][HTML] Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders

N Salles Rosa Neto, IA Pereira, FR Sztajnbok… - Advances in …, 2024 - Springer
13 天前 - … This Review delves into clinical and therapeutic aspects of hereditary connective
tissue disorders of … other genetic diseases, such as hypophosphatasia, and child maltreatment. …

Otolaryngologic sequelae of Ehlers Danlos Syndrome in pediatric patients

C Cottone, D Nanu, EM Gawel, AF Corbin… - International Journal of …, 2024 - Elsevier
16 天前 - … A retrospective chart review was conducted using the US collaborative network
within … EDS is a genetic disorder that results in connective tissue abnormalities affecting the …

[HTML][HTML] Surgical Management of Pes Planus in Children with Hypermobile Ehlers-Danlos: A Case Report and Review of Literature

A Abraham, R Brarens - Foot & Ankle Surgery: Techniques, Reports & …, 2024 - Elsevier
18 天前 - genetic condition that affects your body's connective tissues. There are many subtypes
to the … -Danlos Syndrome (EDS) is a genetic condition that affects your bodies connective